What causes Angelman syndrome?

Angelman syndrome is caused by a genetic mutation on chromosome 15. The name of this gene is UBE3A. Normally, people inherit one copy of the gene from each parent, and both copies become active in many areas in the body. Angelman syndrome occurs when only one copy of the gene is active in certain areas of the brain.

What are the risk factors?

There are no known risk factors for Angelman syndrome. In some cases, a family history may increase the chances of a baby having the disorder but the disease is rare, occurring in just 1 of every 10,000 people. If you already have a child with Angelman syndrome or are concerned about a family history, talking with your doctor or a genetic counselor may be helpful.

什么是症状？

Children with Angelman syndrome tend to have some, but not necessarily all, of the following behaviors and characteristics:

• Hand flapping or walking with arms in the air
• Jerky body movements
• Stiffed-leg walk
• Little or no speech
• 衰减器tion deficits
• 多动症
• 喂养问题，尤其是在婴儿期
• Sleep problems and a need for less sleep than their peers
• Delays in motor development
• Frequent laughter that may occur at inappropriate times
• 令人兴奋的个性
• Tongue thrusting
• Strabismus（眼睛交叉）
• Small head size with flatness in the back of the head
• 尖锐的下颌
• 头发皮肤和眼睛中的色素沉着

Are there medical complications associated with the disorder?

Children with Angelman syndrome may have feeding difficulties, sleep problems and hyperactivity.

• 在生命的头几个月中，可能会出现喂食困难，例如吮吸和吞咽问题。
• Sleep disorders, such as frequent waking, may need to be treated with medication or behavior therapy.
• 多动症tends to decrease as children get older, but many young children with Angelman syndrome may have short attention spans and move quickly from one activity to the next.

Angelman综合征的孩子的预后是什么？

Angelman综合征的人几乎具有正常的生活跨度。成年人通常无法独自生活，但可以学习基本的家庭任务并可以生活在团体房屋中。有些人可以直接监督他们的工作。

医生怎么知道孩子患有安吉尔曼综合症？

出生时没有安吉尔曼综合症的迹象。该疾病通常在6到12个月时被诊断出，当父母开始注意到发育日期，例如缺乏爬行或bab脚时。Seizuresmay begin at 2 to 3 years. A doctor may suspect the disorder in children who have some of these symptoms in addition to others, such as difficulty with movement and balance, a small head size with flatness in the back and frequent laughter.

为了确认对安吉尔曼综合症的诊断，您的孩子的医生将进行基因测试的组合，其中包括以下内容：

• chromosome analysis to examine the size, shape and number of chromosomes in a cell
• fluorescent in situ hybridization (FISH) to see if any chromosomes are missing
• DNA甲基化测试以查看两个基因的副本（来自母亲和父亲的一个副本）是否活跃
• sequencing of the ubiquitin-protein ligase E3A (UBE3A): to look for a mutation in the maternal mutation of this gene, which is a rare cause of Angelman syndrome

Treatment for Angelman syndrome focuses on managing the child's medical problems and developmental delays since there is no cure to repair chromosomes. Treatment may include the following:

• Anticonvulsant medication for seizures
• Physical therapy帮助联合流动性和移动
• Speech therapy
• 职业治疗
• Behavior therapy